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1.
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Int J Mol Sci
; 24(24)2023 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38139222
2.
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus.
Ital J Pediatr
; 48(1): 118, 2022 Jul 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35854335
3.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Genes (Basel)
; 11(12)2020 12 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-33353066
4.
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.
Am J Med Genet A
; 161A(3): 632-6, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401394
5.
Unlicensed and off-label use of medicines at a neonatology clinic in Italy.
Pharm World Sci
; 29(4): 361-7, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17351821
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